“Newborn screening means families with loved ones with Angelman, Prader-Willi, Fragile X and Dup15q syndromes will find a diagnosis in weeks instead of years, avoiding a painful diagnostic journey,” Eileen Braun, executive director of the FPWR, said in a press release. “And, if we can diagnose individuals earlier, we have the best chance of reversing the effects and improving their quality of life much sooner.”

Theresa Strong, FPWR’s director of research programs, expects the study to validate the tool, leading to widespread newborn screening.

“Having a cost-effective test to accurately diagnose these syndromes in the newborn period is key to ensuring that families receive optimal medical care and support,” she said.

“For Prader-Willi Syndrome, this means growth hormones and early intervention therapies that we know from experience have huge benefits,” she said. The disorder causes obesity, intellectual disability, and shortness in height.

With Angelman, future life-altering therapies could be administered in the first few weeks of a baby’s life. The disease causes developmental disabilities and nerve-related symptoms.

The pilot project is also expected to provide better incidence statistics. Current global incidence rates of Prader-Willi and Angelman range from 1 in 12,000 live births to 1 in 30,000. It often takes three years before individuals with Angelman are diagnosed, delaying treatments and causing stress for families.

Murdoch associate professor David Godler, PhD, who will lead the screening, said obsolete tests have likely resulted in underestimated prevalence data for the disorders.

After developing a test called MS-QMA, which can effectively diagnose Fragile X, Godler learned it also works for screenings for Prader-Willi, Angelman, and dup15q, the latter caused by duplications of chromosome 15q11.2-13.1. Symptoms range from poor muscle tone and other physical characteristics to developmental and other disorders.

The test detects changes in the DNA — the addition of methyl chemical groups to DNA molecules, which affect gene expression — in target regions in a highly sensitive manner. The test has a low cost and detects changes often missed by standard tests.

It’s currently being used to screen 100,000 babies for Fragile X, which causes developmental problems including learning disabilities and cognitive impairment.

“My dream is to one day have our tests included in newborn screenings around the world,” Godler said.

Prader-Willi Syndrome News

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